{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T22:35:39Z","timestamp":1791153339601,"version":"4.1.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"2-3","license":[{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1016\/j.ejmg.2013.12.011","type":"journal-article","created":{"date-parts":[[2014,1,22]],"date-time":"2014-01-22T18:26:08Z","timestamp":1390415168000},"page":"65-70","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":37,"title":["An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects"],"prefix":"10.1016","volume":"57","author":[{"given":"Anupam","family":"Rao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheridan","family":"O'Donnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Bain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cliff","family":"Meldrum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damon","family":"Shorter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2013.12.011_bib1","doi-asserted-by":"crossref","first-page":"3901","DOI":"10.1073\/pnas.91.9.3901","article-title":"Transcriptional activation by CTF proteins is mediated by a bipartite low-proline domain Proc","volume":"91","author":"Altmann","year":"1994","journal-title":"Natl Acad Sci USA"},{"key":"10.1016\/j.ejmg.2013.12.011_bib2","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1212\/01.wnl.0000183747.05269.2d","article-title":"A\u00a0developmental and genetic classification for malformations of cortical development","volume":"65","author":"Barkovich","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2013.12.011_bib3","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1136\/jmg.32.8.636","article-title":"Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1","volume":"32","author":"Barton","year":"1995","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ejmg.2013.12.011_bib4","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/ng1096-174","article-title":"Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes","volume":"14","author":"Bellus","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2013.12.011_bib5","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/ajmg.1320280541","article-title":"Recurrent developmental anomalies: 1. Syndrome with hydranencephaly with renal aplastic dysplasia, 2. Polyvalvular developmental heart defect","volume":"3","author":"Bendon","year":"1987","journal-title":"Am J Genet Suppl"},{"key":"10.1016\/j.ejmg.2013.12.011_bib6","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/ajmg.10595","article-title":"Interstitial microdeletion of chromosome 1p in two siblings","volume":"111","author":"Cambell","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2013.12.011_bib7","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/(SICI)1097-0177(199703)208:3<313::AID-AJA3>3.0.CO;2-L","article-title":"Expression patterns of the four nuclear factor I genes during mouse embryogenesis indicate a potential role in development","volume":"208","author":"Chaudhry","year":"1997","journal-title":"Dev Dyn"},{"key":"10.1016\/j.ejmg.2013.12.011_bib8","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.tjog.2011.07.014","volume":"50","author":"Chen","year":"2011","journal-title":"Taiwan J Obstet Gynecol"},{"key":"10.1016\/j.ejmg.2013.12.011_bib9","doi-asserted-by":"crossref","first-page":"11946","DOI":"10.1073\/pnas.96.21.11946","article-title":"Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum","volume":"96","author":"das Neves","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.ejmg.2013.12.011_bib10","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0301-2115(98)00085-2","article-title":"Contribution of congenital malformations to perinatal mortality. A 10 years prospective regional study in The Netherlands","volume":"80","author":"De Galan-Roosen","year":"1998","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.ejmg.2013.12.011_bib11","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/ng1122","article-title":"Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome","volume":"33","author":"Dod\u00e9","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2013.12.011_bib12","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/ng0197-42","article-title":"Mutations of the TWIST gene in the Saethre-Chotzen syndrome","volume":"15","author":"el Ghouzzi","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2013.12.011_bib13","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1146\/annurev-med-042711-140053","article-title":"Genetic basis of intellectual disability","volume":"64","author":"Ellison","year":"2013","journal-title":"Annu Rev Med"},{"key":"10.1016\/j.ejmg.2013.12.011_bib14","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/genetics\/166.2.835","article-title":"Molecular and comparative genetics of mental retardation","volume":"166","author":"Inlow","year":"2004","journal-title":"Genetics"},{"key":"10.1016\/j.ejmg.2013.12.011_bib15","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1056\/NEJM198302243080804","article-title":"Medical progress. Congenital malformations: etiological factors and their role in prevention (first of two parts)","volume":"308","author":"Kalter","year":"1983","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.ejmg.2013.12.011_bib16","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/s00431-009-1057-2","article-title":"A\u00a0novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum","volume":"169","author":"Koehler","year":"2010","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ejmg.2013.12.011_bib17","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1006\/jmbi.1994.1343","article-title":"The genes for transcription factor nuclear factor I give rise to corresponding splice variants between vertebrate species","volume":"238","author":"Kruse","year":"1994","journal-title":"J\u00a0Mol Biol"},{"key":"10.1016\/j.ejmg.2013.12.011_bib18","doi-asserted-by":"crossref","first-page":"6641","DOI":"10.1093\/nar\/19.23.6641","article-title":"Identification of a fourth Nuclear Factor I gene in chicken by cDNA cloning: NFI-X","volume":"19","author":"Kruse","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejmg.2013.12.011_bib19","doi-asserted-by":"crossref","first-page":"0830","DOI":"10.1371\/journal.pgen.0030080","article-title":"NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects","volume":"3","author":"Lu","year":"2007","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ejmg.2013.12.011_bib20","doi-asserted-by":"crossref","first-page":"6438","DOI":"10.1073\/pnas.79.21.6438","article-title":"Adenovirus DNA\u00a0replication in\u00a0vitro: identification of a host factor that stimulates synthesis of the preterminal protein-dCMP complex","volume":"79","author":"Nagata","year":"1982","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.ejmg.2013.12.011_bib21","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1002\/ajmg.a.35779","article-title":"Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions","volume":"161","author":"Perlman","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejmg.2013.12.011_bib22","doi-asserted-by":"crossref","first-page":"6273","DOI":"10.1074\/jbc.271.11.6273","article-title":"Nuclear Factor I as a potential regulator during postembryonic organ development","volume":"271","author":"Puzianowska-Kuznicka","year":"1996","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.ejmg.2013.12.011_bib23","doi-asserted-by":"crossref","first-page":"2607","DOI":"10.1093\/nar\/18.9.2607","article-title":"Chicken NFI\/TGGCA proteins are encoded by at least three independent genes: NFI-A, NFI-B and NFI-C with homologues in mammalian genomes","volume":"18","author":"Rupp","year":"1990","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejmg.2013.12.011_bib24","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.a.30311","article-title":"Detection of interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation","volume":"131A","author":"Shanske","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2013.12.011_bib25","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1523\/JNEUROSCI.23-01-00203.2003","article-title":"Abnormal development of forebrain midline glia and commissural projections in Nfia knock-out mice","volume":"23","author":"Shu","year":"2003","journal-title":"J\u00a0Neurosci"},{"key":"10.1016\/j.ejmg.2013.12.011_bib26","first-page":"507","article-title":"De novo interstitial deletion of chromosome 1p with absent corpus callosum \u2013 a case report","volume":"26","author":"Sivasankaran","year":"1997","journal-title":"Ann Acad Med Singapore"},{"key":"10.1016\/j.ejmg.2013.12.011_bib27","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/nn1705","article-title":"Midline radial glia translocation and corpus callosum formation require FGF signaling","volume":"9","author":"Smith","year":"2006","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.ejmg.2013.12.011_bib28","doi-asserted-by":"crossref","first-page":"5173","DOI":"10.1093\/nar\/13.14.5173","article-title":"Adenovirus sequence required for replication in\u00a0vivo","volume":"13","author":"Wang","year":"1985","journal-title":"Nucleic Acids Res"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214000160?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214000160?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:03Z","timestamp":1761709263000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214000160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":28,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S1769721214000160"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.12.011","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.12.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown copyright \u00a9 2014 Published by Elsevier Masson SAS All rights reserved.","name":"copyright","label":"Copyright"}]}}